X-linked spinocerebellar ataxia 3

An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance.

Also known as: SCAX3; X-linked ataxia-deafness syndrome; X-linked spinocerebellar ataxia type 3